Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severity
两对对通道功能具有相反影响的 CACNA1I (CaV3.3) 变异体会导致不同程度的神经发育障碍。
期刊:PLoS Genetics
影响因子:3.7
doi:10.1371/journal.pgen.1011828
El Ghaleb, Yousra; Fernández-Quintero, Monica L; Campiglio, Marta; Tuluc, Petronel; Höing, Ann-Sophie; Kortüm, Fanny; Motazacker, Mahdi M; Jansen, Iris E; Elting, Mariet W; Plomp, Astrid S; Fischer, Anna-Lena M; Siu, Victoria M; Kutsche, Kerstin; Flucher, Bernhard E